Variant report

Variant	rs16947235
Chromosome Location	chr12:117463317-117463318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117463075..117463618-chr12:117558464..117559173,2	MCF-7	breast:
2	chr12:117461681..117464080-chr12:117470751..117473024,2	MCF-7	breast:
3	chr12:117462978..117464343-chr12:117556869..117558882,20	K562	blood:
4	chr12:117463032..117464059-chr12:117588578..117590000,12	K562	blood:
5	chr12:117463072..117464125-chr12:117557237..117558458,16	MCF-7	breast:
6	chr12:117461340..117464538-chr12:117578917..117582364,3	MCF-7	breast:
7	chr12:117463029..117464320-chr12:117592692..117593657,7	MCF-7	breast:
8	chr12:117463061..117463973-chr12:117592706..117593552,4	K562	blood:
9	chr12:117462662..117464720-chr12:117586991..117588878,2	MCF-7	breast:
10	chr12:117463086..117464021-chr12:117557211..117558240,9	MCF-7	breast:
11	chr12:117462963..117463913-chr12:117537733..117538718,2	MCF-7	breast:
12	chr12:117455374..117458365-chr12:117461422..117463402,2	MCF-7	breast:
13	chr12:117462045..117463688-chr12:117467328..117470013,2	MCF-7	breast:
14	chr12:117141137..117141688-chr12:117462896..117463565,2	K562	blood:
15	chr12:117463007..117463900-chr12:117588701..117589613,6	MCF-7	breast:

No data

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11068269	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11829895	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11830219	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11832649	1.00[CEU][hapmap]
rs11835474	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1320027	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947216	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947228	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35749640	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36021180	1.00[EUR][1000 genomes]
rs3935958	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs3956801	1.00[EUR][1000 genomes]
rs55693524	1.00[EUR][1000 genomes]
rs56103902	1.00[EUR][1000 genomes]
rs56721166	1.00[EUR][1000 genomes]
rs71469784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7313865	1.00[EUR][1000 genomes]
rs7955406	1.00[JPT][hapmap]
rs7964659	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977227	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7980519	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs937567	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs952934	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117387800-117463600	Weak transcription	HMEC	breast
2	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
3	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117452400-117463400	Strong transcription	Fetal Intestine Large	intestine
5	chr12:117452400-117463800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:117452400-117469000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:117452600-117463600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr12:117452800-117465200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:117452800-117468400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:117452800-117470200	Weak transcription	HUVEC	blood vessel
11	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:117453200-117463600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:117453600-117470600	Weak transcription	Psoas Muscle	Psoas
14	chr12:117454800-117466600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:117454800-117468600	Strong transcription	Primary B cells from cord blood	blood
16	chr12:117455600-117463600	Strong transcription	Fetal Stomach	stomach
17	chr12:117456200-117466800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:117456400-117463400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr12:117456600-117465400	Weak transcription	Aorta	Aorta
20	chr12:117456800-117468000	Strong transcription	Liver	Liver
21	chr12:117457200-117469200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr12:117457600-117463600	Strong transcription	HepG2	liver
23	chr12:117457600-117469200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:117457800-117468200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr12:117458000-117463400	Strong transcription	Dnd41	blood
26	chr12:117458200-117463400	Strong transcription	Primary T cells from cord blood	blood
27	chr12:117458600-117463400	Weak transcription	Fetal Brain Male	brain
28	chr12:117458600-117469200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:117458800-117469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:117459200-117463600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:117459600-117469200	Strong transcription	Osteobl	bone
32	chr12:117459800-117463600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:117460200-117463600	Strong transcription	Fetal Lung	lung
34	chr12:117460600-117463400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:117460800-117463400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:117460800-117463600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:117460800-117468000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:117461000-117465600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:117461000-117466400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr12:117461000-117469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:117461200-117463800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:117461200-117463800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:117461200-117467200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr12:117461200-117468200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:117461200-117469200	Strong transcription	Fetal Thymus	thymus
46	chr12:117461400-117463400	Strong transcription	Brain Germinal Matrix	brain
47	chr12:117461400-117463400	Strong transcription	Placenta	Placenta
48	chr12:117461400-117466600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:117461400-117467400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:117461400-117468200	Strong transcription	HSMMtube	muscle

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